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Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses.
Front Cell Neurosci. 2024 Jun 24;18:1403734. doi: 10.3389/fncel.2024.1403734. eCollection 2024.
Front Cell Neurosci. 2024.
PMID: 38978706
Free PMC article.
Review.
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C.
Fabra MA, et al. Among authors: cascajo almenara mv.
J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8.
J Inherit Metab Dis. 2024.
PMID: 38973597
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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R.
Cascajo-Almenara MV, et al.
Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5.
Eur J Hum Genet. 2024.
PMID: 38316953
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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency.
Paredes-Fuentes AJ, Julià-Palacios NA, Montero R, Yubero D, Cascajo-Almenara MV, García-Cazorla À, Santos-Ocaña C, Artuch R.
Paredes-Fuentes AJ, et al. Among authors: cascajo almenara mv.
Clin Chem. 2020 Nov 1;66(11):1465-1467. doi: 10.1093/clinchem/hvaa202.
Clin Chem. 2020.
PMID: 33141909
No abstract available.
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